Dystonia-parkinsonism-hypermanganesemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystonia-parkinsonism-hypermanganesemia syndrome | |
| fr | Syndrome de dystonie-parkinsonisme-hypermanganésémie | |
| de | Dystonie-Parkinsonismus-Hypermanganämie-Syndrom | |
| es | Síndrome de distonía-parkinsonismo-hipermanganesemia | |
| it | Sindrome distonia - parkinsonismo - ipermanganesemia | |
| nl | Dystonie - parkinsonisme - hypermanganesemie-syndroom | |
| pt | Síndrome de distonia-parkinsonismo-hipermanganesémia | |
| pl | Zespół dystonii-choroby Parkinsona-hipermagnezemii | |
| cs | Syndrom zahrnující dystonii, parkinsonismus a hypermanganémii | |
| uk | Синдром дистонії-паркінсонізму-гіпермарганцемії | |
| zh | 肌张力障碍-帕金森症-高锰血症综合征 | |
| tr | Distoni-parkinsonizm-hipermanganezemi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617013 | E | validated | |
| ICD-10 | E83.8 | NTBT | attributed | validated |
| MONDO | 0014864 | E | validated | |
| UMLS | C4310765 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:309851Disorder of manganese transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC39A14 | Disease-causing germline mutation(s) in | Assessed | HGNC:20858 | ENSG00000104635 | 608736 | 8p21.3 | solute carrier family 39 member 14 | 29382362[PMID]_29685658[PMID]_27231142[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 29382362[PMID]_29685658[PMID]_27231142[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29382362[PMID]_29685658[PMID]_27231142[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0008936 | Axial hypotonia | |
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0002483 | Bulbar signs | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0001263 | Global developmental delay | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0032097 | Hypermanganesemia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000338 | Hypomimic face | |
| HP:0001249 | Intellectual disability | |
| HP:0002505 | Loss of ambulation | |
| HP:0002828 | Multiple joint contractures | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0001300 | Parkinsonism | |
| HP:0002465 | Poor speech | |
| HP:0000253 | Progressive microcephaly | |
| HP:0012407 | Scissor gait | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
Annotation source: 29382362[PMID]_29685658[PMID]_27231142[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521406
- This record as JSON: /data/d/521406.json